CSF1R

colony stimulating factor 1 receptor
OMIM: 164770
PanelMode of inheritanceDetails
6 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476, BANDDOS
R-numbers: R58
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
R-numbers: R62
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820, Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476